Iranian Biomedical Journal
مجله بیومدیکال ایران
IBJ
Basic Sciences
http://ibj.pasteur.ac.ir
1
admin
1028-852X
2008-823X
-
10.61186/ibj
-
8888
-
en
jalali
1391
4
1
gregorian
2012
7
1
16
3
online
1
fulltext
en
شناسایی یک موتاسیون در ژن بی-آریل سولفاتاز در سه بیمار ایرانی مبتلا موکوپلی ساکاریدوز نوع شش
Identification of a Novel Arylsulfatase B Gene Mutation in Three Unrelated Iranian Mucopolysaccharidosis Type-VI Patients with Different Phenotype Severity
Related Fields
Related Fields
مقاله کوتاه
Short Communication
<p>Background: Mucopolysaccharidosis type-VI (MPS-VI), which is inherited as an autosomal recessive trait, results from the deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B) activity and the lysosomal accumulation of dermatan sulfate. In this study, ARSB mutation analysis was performed on three unrelated patients who were originally from the West Azerbaijan province of Iran. Methods: After PCR and direct DNA sequencing, DNA extraction was performed. Results: Sequencing analysis revealed a novel homozygous missense mutation in the ARSB gene at c.1457A>G [p. D486V] in three unrelated Iranian MPS-VI patients with different phenotype severity. Conclusion: The mutation type in three patients was the same probably, because of a foundation effect on their population.</p>
Mucopolysaccharidosis type-VI (MPS-VI), Mutation, Iran
171
169
http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-1-363&slc_lang=en&sid=1
Nayerossadat
Nouri
نیره السادات
نوری
100319475328460056491
100319475328460056491
No
Nargesossadat
Nouri
نرگس السادات
نوری
100319475328460056492
100319475328460056492
No
Omid
Aryani
امید
آریانی
100319475328460056493
100319475328460056493
No
Behnam
Kamalidehghan
بهنام
کمالی دهقان
100319475328460056494
100319475328460056494
No
Massoud
Houshmand
مسعود
هوشمند
massoudh@nigeb.ac.ir
100319475328460056495
100319475328460056495
Yes